Glucocerebrosidase (also called glucosylceramidase, β-glucosidase, or D-glucosyl-N-acylsphingosine glucohydrolase) is an enzyme (EC 3.2.1.45) that is needed to cleave, by hydrolysis, the beta-glucosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism. It is localized in the lysosome and has a molecular weight of 59700 Daltons.
Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides. A related pseudogene is approximately 12 kb downstream of this gene on chromosome 1. Alternative splicing results in multiple transcript variants encoding the same protein.[1]
In November 2008 mutations in the glucocerebrosidase gene were the mutations with the strongest association with Parkinson's disease in the PDGene database.[2] The initial study that examined this link was published in 2004.[3]
See also
References
Further reading
- Horowitz M, Zimran A (1994). "Mutations causing Gaucher disease.". Hum. Mutat. 3 (1): 1–11. doi:10.1002/humu.1380030102. PMID 8118460.
- Tayebi N, Stone DL, Sidransky E (2000). "Type 2 gaucher disease: an expanding phenotype.". Mol. Genet. Metab. 68 (2): 209–19. doi:10.1006/mgme.1999.2918. PMID 10527671.
- Stone DL, Tayebi N, Orvisky E, et al. (2000). "Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.". Hum. Mutat. 15 (2): 181–8. doi:10.1002/(SICI)1098-1004(200002)15:2<181::AID-HUMU7>3.0.CO;2-S. PMID 10649495.
- Caillaud C, Poenaru L (2002). "[Gaucher's and Fabry's diseases: biochemical and genetic aspects]". J. Soc. Biol. 196 (2): 135–40. PMID 12360742.
- Fabrega S, Durand P, Mornon JP, Lehn P (2002). "[The active site of human glucocerebrosidase: structural predictions and experimental validations]". J. Soc. Biol. 196 (2): 151–60. PMID 12360744.
- Alfonso P, Aznarez S, Giralt M, et al. (2007). "Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.". J. Hum. Genet. 52 (5): 391–6. doi:10.1007/s10038-007-0135-4. PMID 17427031.
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1ogs: HUMAN ACID-BETA-GLUCOSIDASE
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1y7v: X-ray structure of human acid-beta-glucosidase covalently bound to conduritol B epoxide
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2f61: Crystal structure of partially deglycosylated acid beta-glucosidase
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2j25: PARTIALLY DEGLYCOSYLATED GLUCOCERAMIDASE
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2nsx: Structure of acid-beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease
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2nt0: Acid-beta-glucosidase low pH, glycerol bound
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2nt1: Structure of acid-beta-glucosidase at neutral pH
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External links
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